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rs397507529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507529(A;G)
Make rs397507529(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112473031
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507529
ebirs397507529
HLIrs397507529
Exacrs397507529
Varsomers397507529
Maprs397507529
PheGenIrs397507529
hapmaprs397507529
1000 genomesrs397507529
hgdprs397507529
ensemblrs397507529
gopubmedrs397507529
geneviewrs397507529
scholarrs397507529
googlers397507529
pharmgkbrs397507529
gwascentralrs397507529
openSNPrs397507529
23andMers397507529
23andMe allrs397507529
SNP Nexus

SNPshotrs397507529
SNPdbers397507529
MSV3drs397507529
GWAS Ctlgrs397507529
Max Magnitude0
ClinVar
Risk rs397507529(G;G)
Alt rs397507529(G;G)
Reference rs397507529(A;A)
Significance Pathogenic
Disease Rasopathy not provided Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Rasopathy not provided Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112910835A>G
CLNSRC HGMD
CLNACC RCV000033505.5, RCV000077860.3, RCV000154403.3,